Chapter category: Extracellular Matrix
Mutation Analysis of the FBN1 Gene in Individuals with Marfan Syndrome: Sensitivity, Methods, Clinical Indications
Marfan Syndrome: A Primer for Clinicians
and Scientists
Edited by: Peter Robinson and Maurice GodfreyISBN: 0-306-48238-X
» Get more information about this book at landesbioscience.com «
Chapter authors:
Anne De Paepe, Bart Loeys and Paul Coucke
Since the discovery of the FBN1 gene as the gene responsible for the Marfan syndrome (MFS), molecular testing for this condition has become possible. Although MFS is a clinical diagnosis, certain situations may occur in which molecular analysis of the FBN1 gene is wanted, either for diagnostic, management or genetic counseling purposes. The clinical diagnosis can be challenging in children not yet fulfilling the diagnostic criteria or in instances of variable expressivity of the condition. In addition, molecular testing allows one to offer prenatal and preimplantation genetic diagnosis, an option for which demands are steadily increasing. Nevertheless, molecular analysis is at present a laborious and expensive analysis which can not be offered on a routine basis. The efficiency of mutation detection in the FBN1 gene depends on a number of factors, such as the type of mutation or substrate, the technique used and - above all - the accuracy of the clinical diagnosis. Today, mutation screening techniques allow a mutation detection rate approaching 90%, providing the clinical selection is made appropriately.
Additional chapters from this book:
Diagnosis and Treatment of Marfan Syndrome—A Summary
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Marfan syndrome (MFS) is a dominantly inherited disease of connective tissue with diverse manifestations (Table 1), involving primarily the skeletal, ocular, and cardiovascular systems. Affected ind...
Surgery for Cardiovascular Disorders in Marfan Syndrome: The Atrioventricular Valves, Distal Aortic Segments and Myocardium
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The life expectancy of patients with Marfan syndrome is primarily limited by severe complications of the malformations of the aortic root and the ascending aorta root typical of the disease. The cha...
Cardiovascular Surgery: Surgical Management of the Marfan Patient at the Johns Hopkins Hospital
Duke E. Cameron and Vincent L. Gott
Over the past 25 years, there has been remarkable progress in surgical management of the Marfan patient with aortic root aneurysm. The introduction in 1966 of the composite graft procedure by Mr. Hu...
Organization and Biomechanical Properties of Fibrillin Microfibrils
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The evolution and function of multicellular organisms has required tissue flexibility and the necessity to withstand stretch. These properties underpin movement and allow responses to changing envir...
Familial Thoracic Aortic Aneurysms and Dissections
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Ascending aortic aneurysms leading to type A aortic dissections are the major cardiovascular complication of the Marfan syndrome (MFS). MFS is a major genetic syndrome predisposing individuals to th...
Ophthalmological Aspects
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The eye is involved in a majority of patients affected by Marfan syndrome. Morphological changes essentially affect the microfibrillar elements of the corneoscleral envelope, the iris, and the cilia...
Genetics of Marfan Syndrome in Mouse Models
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Tensile strength and resilience are critically important properties of the connective tissue that are afforded by the assembly of specialized collagenous and elastic fiber networks. In addition to c...
Cardiovascular Surgery (II): Surgical Management of the Marfan Patient at the Johns Hopkins Hospital
Duke E. Cameron and Vincent L. Gott
Over the past 25 years, there has been remarkable progress in surgical management of the Marfan patient with aortic root aneurysm. The introduction in 1966 of the composite graft procedure by Mr. Hu...
Cardiovascular Aspects of the Marfan Syndrome—A Systematic Review
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The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue caused by mutations of the fibrillin-1 gene, which codes for fibrillin, a major component of the extracellular microf...
Insights into Fibrillin-1 Structure and Function from Domain Studies
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Structural information is required to understand the assembly of fibrillin-1 into 10-12 nm microfibrils and to gain insight into the consequences of Marfan syndrome (MFS)-causing mutations. Since fi...
The Marfan Mutation Database
Gwenaëlle Collod-Béroud and Catherine Boileau
Mutations in the fibrillin gene (FBN1) were described at first in Marfan syndrome (MFS) patients. Subsequently, the gene was shown to harbor mutations related to a spectrum of conditions clinically ...
Microfibril-Associated Glycoprotein-1 (MAGP-1) and Other Non-fibrillin Macromolecules Which May Possess a Functional Association with the 10 nm Microfibrils
Mark A. Gibson
There is growing evidence that fibrillin-containing microfibrils are not just fibrillin polymers but that a variety of additional macromolecules may be associated with these structures. The function...
The Biogenesis and Cell Biology of Peroxisomes in Human Health and Disease
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Recent results have demonstrated that the molecular mechanisms of peroxisomal membrane biogenesis and the post-translational import of proteins into the organelle do not follow those paradigms estab...
Mutation Analysis of the FBN1 Gene in Individuals with Marfan Syndrome: Sensitivity, Methods, Clinical Indications
Anne De Paepe, Bart Loeys and Paul Coucke
Since the discovery of the FBN1 gene as the gene responsible for the Marfan syndrome (MFS), molecular testing for this condition has become possible. Although MFS is a clinical diagnosis, certai...
Assembly of Microfibrils
Kerstin Tiedemann, Boris Bätge and Dieter P. Reinhardt
Fibrillins are physiologically secreted as extended thread-like monomers into the extracel- lular matrix by many cell types. The mature functional entity, however, is constituted by higher order ...
Historical Introduction: The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account
Victor A. McKusick
In 1876, E. Williams,1 an ophthalmologist in Cincinnati, Ohio, described ectopia lentis in a brother and sister who were exceptionally tall and had been loosejointed from birth. Although there i...
